ArticleMammalian genome : official journal of the International Mammalian Genome Society2010
Microphthalmia, parkinsonism, and enhanced nociception in Pitx3 ( 416insG ) mice.
Article in Mammalian genome : official journal of the International Mammalian Genome Society, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 40 citations in OpenAlex.
- Characterization of a spontaneous microphthalmia-like mutant mouse with isolated ocular defects.PloS one · 2026Article
- Brainstem serotonin amplifies nociceptive transmission in a mouse model of Parkinson's disease.NPJ Parkinson's disease · 2025Article
- Construction and Identification of a Novel Mice Model of Microphthalmia.Translational vision science & technology · 2024Article
- Developmental pathways linked to the vulnerability of adult midbrain dopaminergic neurons to neurodegeneration.Frontiers in molecular neuroscience · 2022Review
- The Ocular Neural Crest: Specification, Migration, and Then What?Frontiers in cell and developmental biology · 2020Review
- The Use of Induced Pluripotent Stem Cells as a Model for Developmental Eye Disorders.Frontiers in cellular neuroscience · 2020Article
- Mutation in the mouse histone gene Hist2h3c1 leads to degeneration of the lens vesicle and severe microphthalmia.Experimental eye research · 2019Article
- Mouse models for microphthalmia, anophthalmia and cataracts.Human genetics · 2019Review
- Phenotype-genotype correlations and emerging pathways in ocular anterior segment dysgenesis.Human genetics · 2019Review
- Mutation update of transcription factor genes FOXE3, HSF4, MAF, and PITX3 causing cataracts and other developmental ocular defects.Human mutation · 2018Review
- Altered cortico-striatal crosstalk underlies object recognition memory deficits in the sub-chronic phencyclidine model of schizophrenia.Brain structure & function · 2017Article
- Conserved genetic pathways associated with microphthalmia, anophthalmia, and coloboma.Birth defects research. Part C, Embryo today : reviews · 2015Review
- Pain perception in acute model mice of Parkinson's disease induced by 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP).Molecular pain · 2015Article
- Novel and recurrent PITX3 mutations in Belgian families with autosomal dominant congenital cataract and anterior segment dysgenesis have similar phenotypic and functional characteristics.Orphanet journal of rare diseases · 2014Article
- Expression of truncated PITX3 in the developing lens leads to microphthalmia and aphakia in mice.PloS one · 2014Article
- Innovations in phenotyping of mouse models in the German Mouse Clinic.Mammalian genome : official journal of the International Mammalian Genome Society · 2012Article
- Animal models of human genetic diseases: do they need to be faithful to be useful?Molecular genetics and genomics : MGG · 2011Review
- Clinical and experimental advances in congenital and paediatric cataracts.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2011Review
- Cat-Map: putting cataract on the map.Molecular vision · 2010Review
Corrections and comments
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Authors and funding
38 authors at 7 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A new spontaneous mouse mutant was characterized by closed eyelids at weaning and without apparent eyes (provisional gene name, eyeless; provisional gene symbol, eyl). The mutation follows a recessive pattern of inheritance and was mapped to the region of chromosome 19 containing Pitx3. Genetic complementation tests using Pitx3 ( ak/+ ) mice confirmed eyl as a new allele of Pitx3 (Pitx3 ( eyl )). Sequencing of the Pitx3 gene in eyl mutants identified an inserted G after cDNA position 416 (416insG; exon 4). The shifted open reading frame is predicted to result in a hybrid protein still containing the Pitx3 homeobox, but followed by 121 new amino acids. The novel Pitx3 ( eyl/eyl ) mutants expressed ophthalmological and brain defects similar to Pitx3 ( ak/ak ) mice: microphthalmia or anophthalmia and loss of dopamine neurons of the substantia nigra. In addition, we observed in the homozygous eyeless mutants increased extramedullary hematopoiesis in the spleen, frequently liver steatosis, and reduced body weight. There were also several behavioral changes in the homozygous mutants, including reduced forelimb grip strength and increased nociception. In addition to these alterations in both sexes, we observed in female Pitx3 ( eyl/eyl ) mice increased anxiety-related behavior, reduced locomotor activity, reduced object exploration, and increased social contacts; however, we observed decreased anxiety-related behavior and increased arousal in males. Most of these defects identified in the new Pitx3 mutation are observed in Parkinson patients, making the Pitx3 ( eyl ) mutant a valuable new model. It is the first mouse mutant carrying a point mutation within the coding region of Pitx3.
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